ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.170C>G (p.Ser57Cys)

gnomAD frequency: 0.00823  dbSNP: rs34382405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196113 SCV000251367 benign not specified 2014-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000539812 SCV000652839 benign Combined oxidative phosphorylation defect type 14 2025-01-30 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000539812 SCV000845669 likely benign Combined oxidative phosphorylation defect type 14 2018-06-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705026 SCV005222705 likely benign not provided criteria provided, single submitter not provided

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